Identification of Important Pathogenetic Mutations in Chronic Lymphocytic Leukemia Using „Next Generation Sequencing“

Authors: M. Mráz 1,2,3;  M. Trbušek 1,2;  D. Doležalová 3;  J. Malčíková 1,2;  J. Šupíková 1,2;  K. Staňo-Kozubík 1,2;  B. Kantorová 1,2;  J. Mayer 1,2;  Š. Pospíšilová 1,2
Authors‘ workplace: Centrum molekulární biologie a genové terapie, Interní hematoonkologická klinika, FN Brno 1;  CEITEC – Středoevropský technologický institut, Masarykova univerzita, Brno 2;  University of California, San Diego, USA 3
Published in: Transfuze Hematol. dnes,18, 2012, No. 2, p. 72-75.
Category: Comprehensive Reports, Original Papers, Case Reports


For a long time, there has been little success in identifying gene mutations responsible for disease onset and progression in chronic lymphocytic leukaemia (CLL). Our insufficient understanding of CLL pathogenesis has impaired the development of targeted therapy. Several recent publications using Next Generation Sequencing technology have now identified mutations in approximately fifteen protein-coding genes that may be relevant for CLL biology. In this review, we summarize the data acquired thus far and its relative importance for CLL pathogenesis and prognosis.

Key words:
CLL, SF3B1, NOTCH1, MYD88, Next Generation Sequencing, NGS


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Haematology Internal medicine Clinical oncology

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